Neurological Sciences最新文献

{"title":"Felbamate as a therapeutic alternative to drug-resistant genetic generalized epilepsy: a systematic review and meta-analysis.","authors":"Yitao Ma, Matthew Kaminski, Robert Crutcher","doi":"10.1007/s10072-024-07942-6","DOIUrl":"10.1007/s10072-024-07942-6","url":null,"abstract":"<p><strong>Introduction: </strong>The effect of felbamate (FBM) on genetic generalized epilepsy (GGE) remains largely unknown. The utilization of FBM has been limited due to its potential risk of aplastic anemia and hepatic failure. This study aimed to comprehensively evaluate the efficacy and safety of FBM in the treatment of drug-resistant GGE.</p><p><strong>Methods: </strong>We searched the databases, including PubMed, Web of Science, Embase, and Google Scholar, to identify cases of GGE treated with FBM. Data on outcomes and adverse events were extracted from these studies.</p><p><strong>Results: </strong>The literature search yielded 9 studies with 166 cases in which FBM was used as an adjunct therapy to treat drug-resistant GGE. The pooled responder rate to FBM was 65% (95% confidence interval CI, 51-80). 17% (95% CI, 3-31) achieved seizure freedom. 81% (95% CI, 60-100) of patients with Epilepsy with myoclonic atonic seizures were responders. Adverse events were reported in 40% (95% CI, 26-54) of patients.</p><p><strong>Conclusions: </strong>Patients with drug-resistant GGE achieved good responses to FBM. The high heterogeneity between studies calls for further research with large-scale, randomized controlled trials. Given the rare reports of idiosyncratic reactions of aplastic anemia and hepatic failure, intense laboratory monitoring and a slower titration schedule are recommended.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1565-1572"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic mutations in kinases: a comprehensive review on marketed inhibitors and unexplored targets in Parkinson's disease.","authors":"Amir Raza, Jeevika Raina, Sanjeev Kumar Sahu, Pankaj Wadhwa","doi":"10.1007/s10072-024-07970-2","DOIUrl":"10.1007/s10072-024-07970-2","url":null,"abstract":"<p><p>This comprehensive review navigates the landscape of genetic mutations in kinases, offering a thorough examination of both marketed inhibitors and unexplored targets in the context of Parkinson's Disease (PD). Although existing treatments for PD primarily center on symptom management, progress in comprehending the molecular foundations of the disease has opened avenues for targeted therapeutic approaches. This review encompasses an in-depth analysis of four key kinases-PINK1, LRRK2, GAK, and PRKRA-revealing that LRRK2 has garnered the most attention with a plethora of marketed inhibitors. However, the study underscores notable gaps in the exploration of inhibitors for PINK1, GAK, and a complete absence for PRKRA. The observed scarcity of inhibitors for these kinases emphasizes a significant area of untapped potential in PD therapeutics. By drawing attention to these unexplored targets, the review highlights the urgent need for focused research and drug development efforts to diversify the therapeutic landscape, potentially providing novel interventions for halting or slowing the progression of PD.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1509-1524"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel compound heterozygous variants in KIF1A non-motor domain of recessive hereditary spastic paraplegia type 30: a case with 65-year disease history.","authors":"Xiaosheng Zheng, Wei Luo","doi":"10.1007/s10072-024-07917-7","DOIUrl":"10.1007/s10072-024-07917-7","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1933-1935"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The pleomorphic phenotype of neurosarcoidosis.","authors":"Oscar E Garat, Carolina I Perez Arana, Carlos E Perandones, Jorge Correale, Mariano Marrodan","doi":"10.1007/s10072-024-07914-w","DOIUrl":"10.1007/s10072-024-07914-w","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1945-1947"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fractional amplitude of low-frequency fluctuations in right dorsal cingulum bundle associated with depression symptoms in AD patients: effects of donepezil intervention.","authors":"Zhongwei Guo, Fuquan Wei, Hongtao Hou, Xiaozheng Liu","doi":"10.1007/s10072-024-07922-w","DOIUrl":"10.1007/s10072-024-07922-w","url":null,"abstract":"<p><strong>Objectives: </strong>Our aim was to investigate the mechanisms of spontaneous brain activity of white matter functional signals in Alzheimer's disease (AD) patients after donepezil intervention.</p><p><strong>Methods: </strong>We used resting-state functional magnetic resonance imaging and the fractional amplitude of low-frequency fluctuations (fALFF) approach to investigate changes in spontaneous brain activity of white matter functional signals in AD patients before and after donepezil intervention. A total of 32 subjects participated in the study, including 16 healthy subjects (HCs) and 16 AD patients. The 16 AD patients underwent brain imaging and neuropsychological assessment before and after donepezil. ANOVA and post hoc t-test analysis were used to compare the differences in fALFF between the three groups. Pearson correlations were used to investigate the relationships between abnormal fALFF values and clinical variables in AD patients before and after intervention (P < 0.05).</p><p><strong>Results: </strong>Compared to HCs, AD patients before donepezil intervention had an abnormal fALFF in superior longitudinal fasciculus 2; AD patients after donepezil intervention had an abnormal fALFF in right superior longitudinal fasciculus 1,2 and right dorsal cingulum, Compared with baseline, AD patients after donepezil intervention had an abnormal fALFF in the right dorsal cingulum. Compared with the baseline, AD patients after donepezil intervention had significantly decreased depression scores (P < 0.0003).</p><p><strong>Conclusions: </strong>Our study showed that spontaneous activity of functional signalling in the cholinergic pathway was altered in AD patients after donepezil intervention and that this change was associated with depressive symptoms in AD patients.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1629-1635"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142801843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Review of atypical optic neuritis.","authors":"Lepša Žorić, Emina Čolak","doi":"10.1007/s10072-024-07895-w","DOIUrl":"10.1007/s10072-024-07895-w","url":null,"abstract":"<p><p>Optic neuritis (ON), an inflammatory optic neuropathy, is among the most common causes of visual loss. In its initial clinical appearance, ON may have unilateral or bilateral presentation, and anterior (papillitis) or retrobulbar localization. Traditionally, cases are divided into typical and atypical ON. In the Western hemisphere, most typical cases of optic nerve inflammation are associated with multiple sclerosis (MS). However, ON may also be associated with a series of disorders of known or initially undetected origin. Atypical ON has a somewhat different clinical picture from typical ON, and encompasses neuromyelitis optica spectrum disease (NMOSD), myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), idiopathic recurrent neuroretinitis (NR), chronic relapsing inflammatory ON (CRION), ON within systemic autoimmune diseases, paraneoplastic and neuritis during or after infectious diseases or vaccination. The causes should be meticulously worked up, to address the therapeutic and prognostic challenges posed by these conditions. Here, we provide a brief overview of atypical ON, as encountered in our clinical practice, and additionally discuss the possible occurrence of optic neuropathies other than inflammatory and other ocular diseases within these disorders.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1555-1564"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pons metabolite alterations in narcolepsy type 1.","authors":"Micaela Mitolo, Fabio Pizza, David Neil Manners, Lucia Guidi, Annalena Venneri, Luca Morandi, Caterina Tonon, Giuseppe Plazzi, Raffaele Lodi","doi":"10.1007/s10072-025-08009-w","DOIUrl":"10.1007/s10072-025-08009-w","url":null,"abstract":"<p><strong>Introduction: </strong>Narcolepsy type 1 (NT1) is a rare central sleep disorder characterized by a selective loss of hypocretin/orexin (hcrt)-producing neurons in the postero-lateral hypothalamus that project to widespread areas of the brain and brainstem. The aim of this study was to explore in a group of NT1 patients the metabolic alterations in the pons and their associations with disease features.</p><p><strong>Methods: </strong>Twenty-one NT1 patients (16 M) and twenty age-matched healthy controls (10 M) underwent a brain ¹H MRS on a 1.5 T GE Medical Systems scanner. Metabolite content of N-acetyl-aspartate (NAA), choline (Cho), and myo-inositol (mI) were estimated relative to creatine (Cr), using LCModel 6.3. Clinical data were also collected with validated questionnaires, polysomnography, the Multiple Sleep Latency Test (MSLT), Cerebrospinal fluid hypocretin-1 (CSF hcrt-1) concentration and genetic markers.</p><p><strong>Results: </strong>NT1 patients compared with healthy controls showed lower NAA/Cr ratio (p = 0.007) and NAA/mI ratio (p = 0.011) in the pons. The Epworth Sleepiness Scale score showed a significant negative correlation with NAA/Cr content (p = 0.023), MSLT sleep latency a negative correlation with the mI/Cr ratio (p = 0.008), and sleep onset REM periods a positive correlation with the mI/Cr ratio (p = 0.027). CSF hcrt-1 levels were positively correlated with the NAA/Cr ratio (p = 0.039) and negatively with the mI/Cr ratio (p = 0.045) and the Cho/Cr ratio (p = 0.026).</p><p><strong>Conclusion: </strong>The metabolic alterations found in the pons of NT1 patients using the MR Spectroscopy technique were associated with subjective and objective disease severity measures, highlighting the crucial role of this biomarker in the pathophysiology of the disease.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1905-1909"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920375/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143414694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Normative values of the brief international cognitive assessment for multiple sclerosis (BICAMS) in an Italian young adolescent population: the influence of age, sex, and education.","authors":"Fabrizia Falco, Federica Lamagna, Martina Eliano, Cristina di Monaco, Luigi Trojano, Giacomo Lus, Marcello Moccia, Francesca Lauro, Tiziana Liccardo, Alessandro Chiodi, Antonio Carotenuto, Vincenzo Brescia Morra, Roberta Lanzillo","doi":"10.1007/s10072-024-07900-2","DOIUrl":"10.1007/s10072-024-07900-2","url":null,"abstract":"<p><strong>Background: </strong>The Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) is the most widely used in clinical practice and the least time-consuming battery to estimate cognitive function in adults with Multiple Sclerosis (MS), while it has been included in few studies on young MS, also because of the absence of normative values.</p><p><strong>Objective: </strong>The aim of this study is to evaluate the impact of age, sex and education on BICAMS scores in a young adolescent population.</p><p><strong>Methods: </strong>We administered the BICAMS to 169, 11-to-18-year-old, healthy subjects. Linear regression models were used to assess the impact of age, sex, and education on sub-test scores. When statistically significant (p < 0.05), we used the regression coefficient to correct the raw scores.</p><p><strong>Results: </strong>younger age was associated with worse performance on SDMT (β = 1.76; p < 0.05), CVLT-II (β = 3.33; p < 0.05) and BVMT-R (β = 0.62; p < 0.05). Female sex was associated SDMT (β = 2.75 (p < 0.05) and CVLT-II (β = 2.51 (p < 0.05). Educational attainment was associated with better performance on SDMT (β = 1.79 (p = < 0.05) and BVMT-R (β = 0.61; p < 0.05). Cut-off points were suggested at the 5th lowest percentile.</p><p><strong>Conclusion: </strong>Age, sex, and education must be accounted for when applying the BICAMS to young population. Its use in everyday assessment of patients with Pediatric Onset Multiple Sclerosis (POMS) could help to compare and combine data across centers, identifying patients requiring a comprehensive evaluation and ad hoc cognitive stimulation programs.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1777-1782"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nanomedicine in the treatment of Alzheimer's disease: bypassing the blood-brain barrier with cutting-edge nanotechnology.","authors":"Nana Dong, Payam Ali-Khiavi, Nima Ghavamikia, SeyedAbbas Pakmehr, Farzaneh Sotoudegan, Ahmed Hjazi, Morad Kohandel Gargari, Homa Kohandel Gargari, Parisa Behnamrad, Mohammadreza Rajabi, Anis Elhami, Hossein Saffarfar, Mehrdad Nourizadeh","doi":"10.1007/s10072-024-07871-4","DOIUrl":"10.1007/s10072-024-07871-4","url":null,"abstract":"<p><p>Alzheimer's disease (AD) remains a formidable challenge in the field of neurodegenerative disorders, necessitating innovative therapeutic strategies. Nanomedicine, leveraging nanomaterials, has emerged as a promising avenue for AD treatment, with a key emphasis on overcoming the blood-brain barrier (BBB) to enhance drug delivery efficiency. This review provides a comprehensive analysis of recent advancements in the application of nanomaterials for AD therapy, highlighting their unique properties and functions. The blood-brain barrier, a complex physiological barrier, poses a significant hurdle for traditional drug delivery to the brain. Nanomedicine addresses this challenge by utilizing various nanomaterials such as liposomes, polymeric nanoparticles, and metal nanoparticles. These nanocarriers enable improved drug bioavailability, sustained release, and targeted delivery to specific brain regions affected by AD pathology. The review discusses the diverse range of nanomaterials employed in AD treatment, exploring their capacity to encapsulate therapeutic agents, modulate drug release kinetics, and enhance drug stability. Additionally, the multifunctionality of nanomaterials allows for simultaneous imaging and therapy, facilitating early diagnosis and intervention. Key aspects covered include the interaction of nanomaterials with Aβ aggregates, the role of antioxidants in mitigating oxidative stress, and the potential of nanomedicine in alleviating neuroinflammation associated with AD. Furthermore, the safety, biocompatibility, and toxicity profiles of various nanomaterials are scrutinized to ensure their clinical applicability. In conclusion, this review underscores the pivotal role of nanomedicine and nanomaterials in revolutionizing AD treatment strategies. By specifically addressing BBB challenges, these innovative approaches offer new avenues for targeted drug delivery and improved therapeutic outcomes in the complex landscape of Alzheimer's disease.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1489-1507"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anti-JCV antibody index seroconversion in Turkish multiple sclerosis patients treated with natalizumab.","authors":"Edanur Şahin, Tuncay Gündüz, Ahmed Serkan Emekli, Mazlum Ercanoğlu, Sevda Öztürk Erden, Murat Kürtüncü","doi":"10.1007/s10072-024-07929-3","DOIUrl":"10.1007/s10072-024-07929-3","url":null,"abstract":"<p><strong>Background: </strong>The anti-JCV antibody index is widely used to monitor multiple sclerosis (MS) patients receiving natalizumab, as seroconversion is linked to an increased risk of progressive multifocal leukoencephalopathy. This study aimed to evaluate the prevalence and risk factors of anti-JCV antibody seroconversion in patients treated with natalizumab.</p><p><strong>Methods: </strong>We included MS patients exposed to natalizumab treatment for at least one year, with a negative anti-JCV antibody index at baseline, and a minimum of two anti-JCV antibody assessments more than six months apart. We employed Kaplan-Meier survival analysis to assess the median time to seroconversion and the annual seroconversion rate, and univariate and multivariate Cox regression models to evaluate the covariates.</p><p><strong>Results: </strong>Among 96 patients followed for a median of 99 months, 29 (30.2%) patients had seroconversion. The median time to seroconversion was 8.3 years, with an annual rate of 6.1%. Seroconversion rates were higher in smokers (p = 0.02) and patients with a body mass index (BMI) over 25 kg/m² (p = 0.006). Patients who started natalizumab at age 35 or older had a shorter median time to seroconversion (p = 0.003), and most seroconversions occurred within the first three years. No significant associations were found with gender, prior immunosuppressive treatment, MS subtype, or MS age of onset.</p><p><strong>Conclusion: </strong>Anti-JCV seroconversion is more likely in patients who smoke, have a higher BMI, start natalizumab therapy after age 35, and within the first three years of treatment. For these high-risk patients, vigilant monitoring of anti-JCV antibodies is required.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":"1799-1805"},"PeriodicalIF":2.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}